E37A (p.Glu37Ala) variant of EZH2 (Q15910)
E37A (p.Glu37Ala) in EZH2 (Q15910) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
E37A (p.Glu37Ala) variant details
- p.Glu37Ala
- rs1291033053
- TOPMed rs1291033053
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.81
- MetaLR 0.72
- MetaSVM 0.43
- PolyPhen-2 0.04
- SIFT 0.25
- EVE 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available